Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders in order to help them make informed medical and personal decisions. Risk assessment, family history, and genetic testing to clarify genetic status of family members may be part of the genetic counseling process.

Genetic counselors are healthcare professionals with specialized education, training, and experience in medical genetics. They frequently work as part of a team that includes primary providers and other specialists in biochemistry and genetics, and they coordinate activities with many medical specialties, including prenatal care, pediatric specialties, neurology, hematology, and laboratory testing.

Genetic counseling services are available at or through most major medical centers in the United States and serve the medical and lay communities as sources of information, clinical evaluation, management of genetic conditions and birth defects, and coordination with appropriate testing services. Geographic listings of genetic clinics and genetic counselors can be found on the National Society of Genetic Counselors website at http://www.nsgc.org/page/find-a-genetic-counselor. When testing for genetic disease is being considered, pretest counseling may include additional attention to issues of realistic usefulness of currently available tests and consideration of personal, family, privacy, and insurance implications of testing. Just because a test is available does not mean it is appropriate—unwanted information can be generated by genetic testing, tests may cost thousands of dollars, and ambiguous results are possible.

Posttest counseling not only presents test results but also reviews medical and psychological implications for the family and potentially may be expanded to include other family members for counseling and testing. Once identified, experience with rare genetic diseases will add to the direction of specific medical care and therapy, and patient education and counseling can assist with the process of identifying options and resources.

The number of specific genetic tests is increasing rapidly, although availability may be limited and the cost may not be covered by health insurance. An additional dilemma is the lack of usefulness of testing in many disorders to rule out a specific diagnosis. (For example, a tall, thin individual with some cardiac findings like mitral valve prolapse may be thought to have Marfan syndrome. Currently, testing for the gene that causes Marfan syndrome can be done, but it does not find many mutations, even in individuals who are known to have the syndrome.)

Often, it is necessary to study an affected family member to determine what gene mutation is present in a family. This can be problematic in diseases like breast cancer because the affected person may be deceased, unavailable, or uncooperative because of family dynamics. If a family wishes to be studied but no gene mutation is identified, linkage studies might be considered to estimate risks within a family.

Because the possibility of identifying gene changes associated with human disease now exists, so does the expectation and challenge of improving treatment and understanding of both rare and common diseases.